research Stabilizing Mutations of KLHL24 Ubiquitin Ligase Cause Loss of Keratin 14 and Human Skin Fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
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research WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
research Mutations in the Vitamin D Receptor Gene in Four Patients with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
research CYP21A2 Mutations in Women with Polycystic Ovary Syndrome
Mutations in the CYP21A2 gene are not a major factor in causing PCOS.
research Filaggrin Mutations as an Archetype for Understanding the Pathophysiology of Atopic Dermatitis
Filaggrin mutations are linked to atopic dermatitis and help explain how genetics and environment affect the disease.
research Large-Scale Genome-Wide Meta-Analysis of Polycystic Ovary Syndrome Suggests Shared Genetic Architecture for Different Diagnosis Criteria
The research found that PCOS has common genetic factors regardless of how it is diagnosed and is linked to metabolic and reproductive issues.
research Fetal Programming of Polycystic Ovary Syndrome by Androgen Excess: Evidence from Experimental, Clinical, and Genetic Association Studies
Exposure to too much androgen before birth might cause polycystic ovary syndrome later in life.
research Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia
Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
research Genetic Variation at the MC1R Locus and the Time Since Loss of Human Body Hair
Humans lost body hair relatively recently in evolution.
research Genetic Basis of Skin Appendage Development
Hair, teeth, and mammary glands develop similarly at first but use different genes later.
research Genetic Ablation of the CDP/Cux Protein C Terminus Results in Hair Cycle Defects and Reduced Male Fertility
Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
research Androgenetic Alopecia: Identification Of Four Genetic Risk Loci And Evidence For The Contribution Of WNT Signaling To Its Etiology
Four genetic risk spots found for hair loss, with WNT signaling involved and a link to curly hair.
research Genetic Interplays Between Msx2 And Foxn1 Are Required For Notch1 Expression And Hair Shaft Differentiation
Msx2 and Foxn1 are both crucial for hair growth and health.
research Serum Androgens and Genetic Linkage Analysis in Early Onset Androgenetic Alopecia
Early onset hair loss linked to genetics and androgen levels.
research Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology
Certain genetic variations are linked to increased androgen levels in PCOS, but more research is needed to understand these connections fully.
research Genetic Fate Mapping Using Site-Specific Recombinases
The document concludes that careful design of genetic fate mapping experiments is crucial for accurate cell lineage tracing in mice.
research Genetic Basis of Polycystic Ovary Syndrome
The document concludes that PCOS has a strong genetic component, but more research is needed to fully understand the specific genes involved.
research Genetic Ablation of Myelin Protein Zero-Like 3 in Mice Increases Energy Expenditure, Improves Glycemic Control, and Reduces Hepatic Lipid Synthesis
Removing myelin protein zero-like 3 in mice leads to better metabolism and resistance to obesity.
research Study of Human Leukocyte Antigen in 13 Cases of Familial Frontal Fibrosing Alopecia: CYP21A2 Gene p.V281L Mutation from Congenital Adrenal Hyperplasia Linked to HLA Class I Haplotype HLA-A*33:01; B*14:02; C*08:02 as a Genetic Marker
A genetic marker linked to a type of hair loss was found in most patients studied.
research Clinical and Genetic Findings in a Chinese Family with VDR-Associated Hereditary Vitamin D-Resistant Rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research Assessment of Hair and Cashmere Properties and Their Genetic Background of Several Goat Breeds in Southwest China
Crossbreeding improves goat fiber quality, and specific genes affect hair traits and color.
research Gender Specificity of a Genetic Variant of Androgen Receptor and Risk of Coronary Artery Disease
A genetic variant in the androgen receptor gene increases heart disease risk in women but not in men.
research Genetic Variation in the Ovine KAP22-1 Gene and Its Effect on Wool Traits in Egyptian Sheep
Certain genetic changes in the KAP22-1 gene are linked to better wool quality in Egyptian sheep.
research Genetic Variations Associated With Response to Dutasteride in the Treatment of Male Subjects With Androgenetic Alopecia
Genetic variations affect dutasteride treatment response for male pattern hair loss.
research Case Report: Exploring Autosomal Recessive Woolly Hair: Genetic and Scanning Electron Microscopic Perspectives on a Japanese Patient
A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research Molecular Genetic and Endocrine Mechanisms of Hair Growth
Hormones and their receptors, especially androgens, play a key role in hair growth and disorders like baldness.
research Mutations in Sterol O-Acyltransferase 1 (SOAT1) Result in Hair Interior Defects in AKR/J Mice
A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
research Taking Advantage of Phenotype Variability in a Local Animal Genetic Resource: Identification of Genomic Regions Associated with the Hairless Phenotype in Casertana Pigs
Researchers found two genes that may explain why some Casertana pigs don't have hair.
research The Impact of Certain Genetic Variants (Single Nucleotide Polymorphisms) on Incidence and Severity of COVID-19
Certain genetic differences may affect how likely someone is to get COVID-19 and how severe it might be.